RESUMEN
Kleefstra syndrome (KS) is a genetic syndrome caused by a haploinsufficiency of the EHMT1 gene and characterized by intellectual disability, language disorders, childhood hypotonia and distinct facial features. Only a few cases of first episode of psychosis in KS have already been reported. We describe a young female patient with KS who presented a first episode of psychosis. In a context of an initial diagnosis wavering and a lack of recommendations, this clinical observation illustrates the importance of psychiatric comorbidities and their diagnostic and therapeutic complexity in KS; with a need for multidisciplinary management considering its specific aspects and vulnerabilities.
Asunto(s)
Anomalías Craneofaciales , Discapacidad Intelectual , Trastornos Psicóticos , Niño , Deleción Cromosómica , Cromosomas Humanos Par 9/genética , Anomalías Craneofaciales/complicaciones , Anomalías Craneofaciales/genética , Femenino , Cardiopatías Congénitas , N-Metiltransferasa de Histona-Lisina/genética , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Trastornos Psicóticos/complicaciones , Trastornos Psicóticos/genéticaRESUMEN
AIM: To present the activities of a Mobile Intensive Care Unit in France. METHODS: We summarize participant recruitment as well as the diagnostic procedures and therapeutic interventions offered to individuals with an at-risk mental state or first-episode psychosis (FEP). RESULTS: Since its inception in 2010, 266 individuals from 16 to 30 years old living in an area of 120 000 citizens have been recruited by the Mobile Intensive Care Unit. Patients are evaluated by clinical and neuropsychological assessments, and therapeutic interventions include medication, individual case management and both individual and group cognitive behavioural therapy. Diagnostic assessments are also provided for the patients outside of our geographic area. CONCLUSIONS: The Mobile Intensive Care Unit is a functional unit enabling young adults with a high-risk mental state or FEP to receive high standard of care and mobile management over 2 years, aimed at diminishing the risk of transition to chronic disease and decreasing functional impairment.